{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T12:37:19Z","timestamp":1788784639067,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Coffin\u2013Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg\u20101 associated factors (BAF) complex. Classically, individuals with CSS have been described with hypo\u2010 or aplasia of the fifth digit nails or phalanges (hence the term \u201cfifth digit syndrome\u201d). Other physical features seen include growth restriction, coarse facial features, hypertrichosis or hirsutism, sparse scalp hair, dental anomalies, and other organ\u2010system abnormalities. Varying degrees of developmental and intellectual delay are universal. To date, approximately 200 individuals have been described in the literature. With the advent of large\u2010scale genetic testing such as whole\u2010exome sequencing is becoming more available, more individuals are being found to have mutations in this pathway, and the phenotypic spectrum appears to be broadening. We report here a large cohort of 81 individuals with the diagnosis of CSS from the first parent\u2010reported CSS\/BAF complex registry in an effort to describe this variation among individuals, the natural history of the syndrome, and draw some gene\u2013phenotype correlations. We propose that changes in the BAF complex may represent a spectrum of disorders, including both <jats:italic>ARID1B<\/jats:italic>\u2010related nonsyndromic intellectual disability (<jats:italic>ARID1B<\/jats:italic>\u2010ID) and CSS with classic physical features. In addition, we offer surveillance and management recommendations based on the medical issues encountered in this cohort to help guide physicians and patients' families.<\/jats:p>","DOI":"10.1002\/ajmg.a.40471","type":"journal-article","created":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T06:04:18Z","timestamp":1538460258000},"page":"2250-2258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["First data from a parent\u2010reported registry of 81 individuals with Coffin\u2013Siris syndrome: Natural history and management recommendations"],"prefix":"10.1002","volume":"176","author":[{"given":"Elizabeth A.","family":"Mannino","sequence":"first","affiliation":[{"name":"Doctor of Medicine Program Eastern Virginia Medical School  Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanae","family":"Miyawaki","sequence":"additional","affiliation":[{"name":"Master of Public Health Program, Eastern Virginia Medical School Old Dominion University  Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs","family":"Santen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters  Norfolk Virginia"},{"name":"Department of Pediatrics Eastern Virginia Medical School  Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1757-z"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_6_4_1","first-page":"6","article-title":"Arid1b haploinsufficieent mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment","volume":"11","author":"Celen C.","year":"2017","journal-title":"eLife"},{"issue":"5","key":"e_1_2_6_5_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalynx","volume":"119","author":"Coffin G. 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